Research Approaches to Improve the Care and Outcomes of People Living with Spina Bifida

项目/摘要摘要 脊柱裂 (SB) 是最常见的永久性出生缺陷。仅在美国， 据估计，有超过 150,000 人患有 SB。鉴于 SB 护理的高度医疗复杂性，许多 SB 患者经常表现出多种合并症（例如，脊髓栓系综合征、肠/膀胱综合征） 失禁、皮肤溃疡、认知缺陷等）。随后成年后，他们的健康相关水平往往较低 生活质量下降，接受高等教育较少，就业率较低。其中大部分都在 成就可以追溯到早期的神经发育缺陷。然而，早期的风险因素 对这些不良神经发育结果的了解仍然不够。同时，与 产前脊髓脊膜膨出修复的增殖及其相关的早产风险，需要 阐明胎儿修复对长期神经发育结果的影响变得比 曾经。我们的早期研究比较了微创胎儿（胎儿镜）手术与产前开放子宫切开术 脊髓脊膜膨出修复，表明除了阴道足月分娩外，那些通过胎儿镜修复的患者 表现出与使用开放式修复术修复的神经外科、运动和泌尿外科结果相当的结果 子宫切开术方法。此外，国家脊柱裂患者登记处 (NSBPR) 出版物已 表明该国家样本中可能存在一些种族/民族健康差异。此举的目标 建议调查与产前脊髓脊膜膨出修复相关的结果，并同时调查 是否因种族/族裔而在接受后续护理方面存在差异。在目标 1 中，我们将检查 胎儿脊髓脊膜膨出修复的不同方法与神经外科结果之间的关系（按顺序排列） 确定最佳护理实践标准。在目标 2 中，我们将研究神经源性膀胱与神经源性膀胱之间的关系。 和自我管理、种族/民族和胎儿脊髓脊膜膨出修复，以促进最佳实践 膀胱节制指南。最后，在目标 3 中，我们将评估之间关系的差异 种族/族裔以及接受预防皮肤破裂或脊髓栓系综合征的干预措施 识别并解决任何已发现的差异。我们希望这些研究能够比较神经外科手术 和全国样本中胎儿 MMC 修复方法的泌尿系统结果，并检查是否存在差异 与接受干预措施和结果的关系。

PROJECT/SUMMARY ABSTRACT Spina bifida (SB) is the most common permanently disabling birth defect. In the United States alone, it is estimated that more than 150,000 individuals live with SB. Given the high medical complexity of SB care many individuals with SB often exhibit numerous comorbidities (e.g., tethered cord syndrome, bowel/bladder incontinence, skin ulcers, cognitive deficits, etc.). Subsequently as adults, they often have a lower health-related quality of life, participate less in higher education, and have lower rates of employment. Much of this under- attainment can be traced back to early neurodevelopmental deficits. However, the early risk factors contributing to these poor neurodevelopmental outcomes are still insufficiently understood. Concurrently, with the proliferation of prenatal myelomeningocele repair and its associated risk for premature birth, the need for elucidating the impact of fetal repair on long-term neurodevelopmental outcomes has become more urgent than ever. Our early studies comparing minimally invasive fetal (fetoscopic) surgery to open-hysterotomy prenatal myelomeningocele repair, show that in addition to vaginal term births, those who were repaired fetoscopically demonstrate comparable neurosurgical, motor, and urological outcomes to those repaired using the open- hysterotomy approach. Furthermore, National Spina Bifida Patient Registry (NSBPR) publications have demonstrated that some racial/ethnic health disparities may exist in this national sample. The goal of this proposal is to investigate the outcomes related to prenatal myelomeningocele repair and concurrently investigate if differences in the receipt of subsequent care exist based on race/ethnicity. In Aim 1, we will examine the relationship between different approaches to fetal myelomeningocele repair and neurosurgical outcomes in order to identify best practice standards of care. In Aim 2, we will examine the relationship between neurogenic bladder and self-management, race/ethnicity, and fetal myelomeningocele repair in order to promote best practice guidelines for bladder continence. Lastly in Aim 3, we will evaluate for disparities in the relationship between race/ethnicity and the receipt of intervention for skin breakdown prevention or tethered cord syndrome in order to identify and address any difference identified. We expect that these studies will compare the neurosurgical and urologic outcomes of fetal MMC repair approaches in a national sample, and examine if disparities exist in relation to the receipt of interventions and outcomes.